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目的了解我国黎族群体α-地中海贫血的发生率及基因型的分布状况。方法343例EDTA抗凝末梢血样，分别采自海南省陵水县两个黎族居住地的在校小学生．chelex法提取DNA。按EBaysalandTHJHuisman检测a-地贫2基因的方法、WinichagoonPrance检测a-地贫1基因的方法和SupanFucharoen检测HbCS基因的方法进行样品分析，但聚合酶链反应的实验条件略有改变．扩增产物经琼脂糖凝胶电泳鉴定。结果343名黎族小学生正常（aa/aa）154例（44．85％），a-地贫1余台子（aa/－-）4例（1．17％）．a-地贯2突变的185例（53．94％），未检出HbCS基因。具有a-地贫2突变的个体检出五种基因型：（－a3.7aa）68例;（－a4.2/aa）70例；（－a3.7/－a3.7）17例；（－a4.2/－a4.2）9例;（－a3.7＞-a4.2）21例。结论中国黎族小学生a-地中海贫血发生率较高，绝大多数为缺失型a-地贫2。未检出非缺失型的HBCS基因。
Objective To understand the prevalence of α-thalassemia and the distribution of genotypes in the Chinese Li population. Methods A total of 343 EDTA anticoagulated peripheral blood samples were collected from primary and secondary school students from two Li nationalities living in Lingshui County, Hainan Province. The chelex method extracts DNA. Samples were analyzed by EBaysaland THJ Huisman’s method for detecting a-thalassemia 2 gene, Winichagoon Prance’s method for detecting a-thalassemia 1 gene and SupanFucharoen’s method for detecting HbCS gene, but the experimental conditions for polymerase chain reaction were slightly changed. The amplified product was identified by agarose gel electrophoresis. Results A total of 343 primary (aa/aa) primary school students (154 cases (44.85%)) and 1 a-thalassaemia group (aa/--) 4 cases (1.17%). There were 185 cases (53.94%) with mutations in the a-segment, and no HbCS gene was detected. Five genotypes were detected in individuals with a-thalassemia 2 mutation: (-a3.7aa) in 68 cases; (-a4.2/aa) in 70 cases; (-a3.7/-a3.7) in 17 cases; (-a4.2/-a4.2) 9 cases; (-a3.7>-a4.2) 21 cases. Conclusions The prevalence of a-thalassemia in primary school students in Li nationality in China is high, and the majority of them are missing type a-thalassemia 2. No non-deleted type of HBCS gene was detected.